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Key Features

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Essentials of Diagnosis
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  • Most children with Hirschsprung disease do not pass stool in the first 24 hours of their life

  • Results from an absence of ganglion cells in the mucosal and muscular layers of the colon

  • Absence of ganglion cells results in failure of the colonic muscles to relax in front of an advancing bolus

  • On digital rectal examination, the anal canal and rectum are devoid of fecal material despite obvious retained stool on abdominal examination or radiographs

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General Considerations
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  • Classified by affected segment

    • Short-segment disease

      • Restricted to the rectosigmoid colon

      • Seen in 80% of individuals

    • Long-segment disease

      • Extends proximal to the sigmoid colon

      • Seen in 15–20%

    • Total colonic aganglionosis

      • Affects the entire large intestine

      • Seen in about 5%

  • Segmental aganglionosis is possible but rare

  • A chromosomal abnormality is present in approximately 12% of individuals with Hirschsprung disease

    • Most common is Down syndrome

    • Between 2% and 10% of all individuals with Down syndrome may have Hirschsprung disease

  • Mutations in the ret proto-oncogene have been identified in about 15% of nonsyndromic cases.

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Demographics
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  • Incidence is 1 in 5000 live births

  • Four times more common in boys than girls

  • A familial pattern has been described, particularly in total colonic aganglionosis

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Clinical Findings

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Symptoms and Signs
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  • Failure of the newborn to pass meconium, followed by vomiting, abdominal distention, and reluctance to feed

  • Symptoms can include

    • Foul-smelling or ribbon-like stools

    • Distended abdomen with prominent veins

    • Visible peristaltic waves with palpable fecal masses

  • Intermittent bouts of intestinal obstruction, hypoproteinemia, and failure to thrive are common

  • In later infancy, alternating obstipation and diarrhea predominate

  • The older child is more likely to have constipation alone

  • Encopresis is rare

  • On digital rectal examination, the anal canal and rectum are devoid of fecal material despite obvious retained stool on abdominal examination or radiographs

  • In short-segment disease

    • Symptoms may not obvious at birth

    • On digital rectal examination, may be gush of flatus and stool as finger is withdrawn

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Differential Diagnosis
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  • Retentive constipation

  • Hypothyroidism

  • Intestinal pseudo-obstruction

  • Other motility disorders

  • Celiac disease

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Diagnosis

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Laboratory Findings
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  • Ganglion cells are absent in both the submucosal and muscular layers of involved bowel

  • Special stains may show nerve trunk hypertrophy and increased acetylcholinesterase activity

  • Ganglionated bowel above the aganglionic segment is sometimes found to contain more than normal numbers of ganglion cells in abnormal locations (neuronal dysplasia)

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Imaging
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  • Plain abdominal radiographs may reveal

    • Dilated proximal colon

    • Absence of gas in the pelvic colon

  • Barium enema using a catheter without a balloon and with the tip inserted barely beyond the anal sphincter usually demonstrates a narrow distal segment with a sharp transition to the proximal dilated (normal) colon

  • Meglumine diatrizoate (Gastrografin) enema

    • Both diagnostic ...

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